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| SLC25A12及SCN2A2基因多态性与孤独症的关系 | |
| 引用本文： | 延正红,邢杰,罗海英,杨同书,坂本裕美子,难波荣二. SLC25A12及SCN2A2基因多态性与孤独症的关系[J]. 吉林大学学报(医学版), 2006, 32(2): 313-315. DOI: 日本笹川医学奖学金资助课题(2004) |
| 作者姓名： | 延正红 邢杰 罗海英 杨同书 坂本裕美子 难波荣二 |
| 作者单位： | 1. 吉林大学第二医院儿童保健科, 吉林 长春 130041; 2. 吉林大学再生医学科学研究所生物化学研究室, 吉林 长春 130021; 3. 日本鸟取大学遗传子探索, 日本 米子683-8503 |
| 摘 要： | 目的：探讨SLC25A12和SCN2A2基因单核苷酸多态性(SNPs)与孤独症的关系。方法：从日本孤独症患儿和其健康父母组成的105个核心家系取全血提取基因组DNA，应用PCR-SSCP法检测SLC25A12和SCN2A2基因位点rs3770448和 rs3769955的单核苷酸多态性的分布。结果：rs3770448、rs3769955基因型频率的分布均符合Hardy-Weinberg平衡; 传递不平衡检验（TDT）结果显示,父母和受累子女之间不存在显著的传递不平衡(χ2=1, P>0.05; χ2=0.604,P>0.05),即杂合父母传递给受累子女的等位基因无差异。结论：SLC25A12基因位点 rs3770448和SCN2A2基因位点rs3769955可能与孤独症无关，但尚不能排除该基因其他SNPs与孤独症相关联的可能性。 |
| 关 键 词： | 多态性 单核苷酸 多态性 单链构象 传递不平衡检验 |
| 文章编号： | 1671-587X(2006)02-0313-03 |
| 收稿时间： | 2005-05-25 |
| 修稿时间： | 2005-05-25 |
Association between SLC25A12 and SCN2A2 gene polymorphisms and autism |
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| YAN Zheng-hong,XING Jie,LUO Hai-ying,YANG Tong-shu,Sakamoto Y,Nanba E. Association between SLC25A12 and SCN2A2 gene polymorphisms and autism[J]. Journal of Jilin University: Med Ed, 2006, 32(2): 313-315. DOI: 日本笹川医学奖学金资助课题(2004) | |
| Authors: | YAN Zheng-hong XING Jie LUO Hai-ying YANG Tong-shu Sakamoto Y Nanba E |
| Affiliation: | 1. Department Children′s Health Care, Second Hospital, Jilin University, Changchun 130041,China; 2. Department of Biochemistry, Institute of Frontier Medical Sciences, Changchun 130021,China; 3. Gene Research Center, Tottori University, Yonago 683-8503, Japan |
| Abstract: | Objective To investigate the association SLC25A12 and SCN2A2 gene single nucleotide polymorphisms(SNPs) and susceptibility to autism among 105 Japanese family trios consisting of fathers,mothers,and affected offsprings with autism.Methods Genomic DNA was isolated from the whole blood samples.The PCR-single stranded conformational polymorphism(SSCP) technique was used to test genotype of SNPs(rs3770448,rs3769955) at SLC25A12 and SCN2A2 genes.Results The distributions of genotypic and allelic frequencies of rs3770448 and rs3769955 were not deviated from the Hardy-Weinberg equilibrium.The results of transmission disequilibrium test(TDT) indicated that the allelic frequency transmitted from the heterozygote parents didn′t deviate 50%.Conclusion The polymorphism of rs3770448 in the SLC25A12 and rs3769955 in the SCN2A2 locus may not be associated with autism.But the association of the other SNPs at the SLC25A12 and SCN2A2 locus with the illness can not be ruled out. |
| Keywords: | autistic disorder polymorphisms single nucleotide polymorphism single stranded conformational transmission disequilibrium test |
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